Results 51 to 60 of about 28,810 (212)

Motor and Cognitive Outcome After Subthalamic Nucleus Deep Brain Stimulation in Patients with Parkinson's Disease Harboring GBA1 Variant

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Deep brain stimulation (DBS) is effective for Parkinson's disease (PD); however, its efficacy varies with genetic background, such as the GBA1 variant—the causative gene of Gaucher disease—associated with increased PD risk and cognitive decline after subthalamic nucleus (STN)‐DBS.
Hikaru Kamo, Genko Oyama, Mai Shimizu, Haruka Takeshige‐Amano, Takashi Ogawa, Wataru Sako, Noriko Nishikawa, Taku Hatano, Yuanzhe Li, Hiroyo Yoshino, Manabu Funayama, Masanobu Ito, Hirokazu Iwamuro, Atsushi Umemura, Nobutaka Hattori   +14 more
wiley   +1 more source

Osteoarticular pathology in Gaucher disease, complicated by tuberculosis (clinical observations)

Гений oртопедии, 2022
Introduction Gaucher disease belongs to the group of hereditary lysosomal orphan cumulative diseases caused by deficiency of the β-glucocerebrosidase enzyme. It features polysystemic affection, including bone tissue. The osteoarticular system in Gaucher
Lyudmila A. Semenova, Vladimir A. Khomenko, Kira A. Lukina   +2 more
doaj   +1 more source

GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility

Movement Disorders, EarlyView.
Abstract Background GBA1 variants cause Gaucher's disease (GD) in biallelic forms and increase Parkinson's disease (PD) risk in heterozygous carriers. Carriers of mild or severe variants (causing GD type 1 or types 2–3) can enroll in clinical trials, whereas those with GBA1 variants classified as unknown are typically excluded.
Sitki Cem Parlar, Yoomin Lee, Ziv Gan‐Or   +2 more
wiley   +1 more source

Gaucher Disease pada Bayi: Kasus Jarang

Majalah Kedokteran Andalas, 2023
Pendahuluan: Gaucher disease (GD) adalah penyakit genetik yang ditandai dengan akumulasi substansi lemak di dalam sel atau organ-organ tertentu. Penyakit ini disebabkan oleh mutasi gen glucosidase beta acid (GBA) yang mengakibatkan defisiensi enzim ...
Rikarni Rikarni, Harika Putra
doaj   +1 more source

Targeted delivery of lysosomal enzymes to the endocytic compartment in human cells using engineered extracellular vesicles. [PDF]

, 2019
Targeted delivery of lysosomal enzymes to the endocytic compartment of human cells represents a transformative technology for treating a large family of lysosomal storage diseases (LSDs).
Brown, Annie, Do, Mai Anh, Levy, Daniel, Lu, Biao, Marriott, Gerard   +4 more
core   +1 more source

Uncovering the Complexity of Synucleinopathies: An Ongoing Tale Between Proteins and Lipids

Movement Disorders, EarlyView.
Abstract Neurodegenerative diseases are pathological states characterized by progressive alterations in brain homeostasis during aging. Synucleinopathies, including Parkinson's disease and dementia with Lewy bodies, are defined neuropathologically by the accumulation of inclusions known as Lewy bodies and Lewy neurites.
Manuel Flores‐León, Tiago F. Outeiro
wiley   +1 more source

Gaucher disease treatment: a Brazilian consensus [PDF]

, 2003
Gaucher disease is one of the inborn errors of metabolism from lysossomal storage diseases and the most frequent of this group. It iss an autosomal recessive disease with reoccurrence risk of 25% in each pregnancy of hetrozygotes parents.
Aranda, Paulo C., Bortolheiro, Teresa C., Kerstenetzky, Marcelo S., Lobo, Clarisse L., Martins, Ana Maria, Montoril, Maria F. P., Mota, Ronald M. V., Paula, Maria T. M., Pianovsky, Mara A. D., Pires, Ricardo F., Porta, Gilda, Semionato Filho, José, Sobreira, Elisa A. P., Valadares, Eugenia R.   +13 more
core   +3 more sources

The Race to Salvage Glucocerebrosidase: Understanding Small‐Molecule Therapies for GBA1‐Associated Parkinsonism

Movement Disorders, EarlyView.
Variants in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase, cause Gaucher disease and confer an increased risk for parkinsonism. Strategies using small molecules can improve the function of glucocerebrosidase in lysosomes. A clear understanding of the mechanism‐of‐action of these compounds will facilitate development of GBA1‐modulating
Mark J. Henderson, Tiffany C. Chen, Logan M. Glasstetter, Yu Chen, Juan J. Marugan, Ellen Sidransky   +5 more
wiley   +1 more source

Demographic, Clinical and Genetic Characteristics of Child Gaucher Disease Patients in Russia: Pediatric Register Data

Педиатрическая фармакология, 2016
Background: Registers are an effective tool for tracing the dynamics of patients with rare pathologies.Objective: Our aim was to examine the demographic, clinical and genetic features of child Gaucher disease patients in Russia.Methods: We held a ...
G. B. Movsisyan, O. S. Gundobina, L. S. Namazova-Baranova, K. V. Savostyanov, A. N. Pushkov, V. V. Chernikov, N. N. Mazanova, A. M. Romanyuk, V. I. Smirnov   +8 more
doaj   +1 more source

Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease

Molecular Genetics and Metabolism Reports, 2021
Gaucher disease is renowned for extreme phenotypic diversity that does not show consistent genotype/phenotype correlations. In Argentina, a national collaborative group, Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Gaucher, GADTEG ...
Guillermo I. Drelichman, Nicolas Fernández Escobar, Barbara C. Soberon, Nora F. Basack, Joaquin Frabasil, Andrea B. Schenone, Gabriel Aguilar, Maria S. Larroudé, James R. Knight, Dejian Zhao, Jiapeng Ruan, Pramod K. Mistry   +11 more
doaj   +1 more source